Discovery and functional analysis of a novel ALPK1 variant in ROSAH syndrome by Tom Snelling, Leo O. Garnotel, Isabelle Jeru, Maud Tusseau, Laurence Cuisset, Antoinette Perlat, Geoffrey Minard, Thibaut Benquey, Yann Maucourant, Nicola T. Wood, Philip Cohen, Alban Ziegler

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